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Correlation of inflammatory cytokines with clinical manifestations and prognosis in children with febrile seizures.

ObjectiveTo explore the effects of cytokines on Febrile seizures (FS) in children with febrile seizures (Febrile seizures), febrile seizures duration and prognosis, and to explore the correlation between cytokines and the clinical manifestations and prognosis of FS. MethodsA retrospective analysis was performed on 121 children with FS (77 cases in the simple FS group and 44 cases in the complex FS group) who were treated in the pediatrics department of the Maternal and Child Health Hospital of Inner Mongolia Autonomous Region from January 2021 to October 2022 as the experimental group, including 71 males and 50 females, with a male-to-female ratio of 1.42:1, according to the type of attack (93 cases in the comprehensive group, 44 cases in the complex FS group). The focal group (28 cases) and convulsion duration (91 cases in <5 min group and 30 cases in ≥5 min group) were divided into groups, and 127 cases of children with fever but no convulsions were compared with the control group. In addition, 121 children with FS were followed up for 1 year by neurology specialist outpatient department and telephone follow-up. According to the follow-up, they were divided into the first course group, the relapse group and the secondary epilepsy group, so as to further explore the correlation between cytokines and the prognosis of children with FS. ResultsExperimental group compared with control group: Serum IL-1β (1.38 pg/mL), IL-2 (2.26 pg/mL), IL-4 (1.53 pg/mL), IL-6 (10.51 pg/mL), IL-10 (3.09 pg/mL), IL-12p70 (1.74 pg/mL), TNF-α (2.11 pg/mL), IFN-γ (46.56 pg/mL), IL-1β (1.38 pg/mL), IL-1β (1.26 pg/mL), IL-4 (1.53 pg/mL), IL-6 (10.51 pg/mL), IL-10 (3.09 pg/mL), IL-12P70 (1.74 pg/mL), TNF-α (2.11 pg/mL), IFN-γ (46.56 pg/mL). IFN-α (25.92 pg/mL) levels were higher, and the differences were statistically significant (P<0.05). There was no significant difference between the simple group and the complex group (P>0.05). <5 min group compared with control group: serum levels of IL-2 (2.32 pg/mL), IL-4 (1.53 pg/mL), IL-6 (9.65 pg/mL), IL-12p70 (1.74 pg/mL), TNF-α (2.11 pg/mL), IFN-γ (44.63 pg/mL), IFN-α (29.67 pg/mL) were higher, and the differences were statistically significant (P<0.05). Compared with control group, the levels of IL-2 (2.06 pg/mL), IL-6 (14.67 pg/mL), IL-12p70 (1.97 pg/mL), IFN-γ (58.56 pg/mL) and IFN-α (17.50 pg/mL) in ≥5 min group were higher, and the differences were statistically significant (P<0.05). ROC curve analysis showed that serum IFN-α had a high predictive value for FS onset, the cut-off point was 8.64pg/ml, and the sensitivity and specificity were 75.63% and 76.38%, respectively. There was no significant difference between the first course of disease group, relapse group and secondary epilepsy group. ConclusionSerum proinflammatory cytokines IL-1β, IL-2, IL-6, IL-12p70, TNF-α, IFN-γ, IFN-α and anti-inflammatory cytokines IL-4 and IL-10 are involved in the pathogenesis of FS. There was no correlation between the simplicity and complexity of serum cytokines. IL-2, IL-6, IL-12p70, IFN-γ, IFN-α were positively correlated with the duration of convulsion. When serum IFN-α>8.64 pg/ml, the possibility of FS attack increased.

母源KCNQ3基因突变致自限性家族性新生儿癫痫一例

Clinical features analysis in 10 children with seizures as core symptoms of neuronal surface antibody syndromes

ObjectiveTo study the clinical features of children with seizures as core symptoms of neuronal surface antibody syndromes. MethodsThe clinical data of neuronal surface antibody syndromes between December 2015 and December 2016 were obtained and analyzed. All children presented to hospital with seizures as core symptoms. ResultsThere were 1 male and 9 females in this study. The ages ranged from 3 years to 13 years. The disease course was between 3 and 14 days. All children presented to hospital with seizures as core symptoms.Two children had tonic seizures. one had tonic-clonic seizure. Seven had partial seizures. Among them, six children had status epilepticus and cluster attack. The other symptoms in the course of the disease were psychiatric symptoms and extrapyramidal symptoms.The anti-NMDAR antibody were found in 9 patients' CSF and blood. The LGI1 antibody was found in one patients' CSF and blood.The EEG test of 7 patients showed slow wave and sharp slow wave. Two showed spike wave. One showed slow wave.The MRI test of one patient showed abnormal. Ten cases were treated with IVIG and methylprednisolone during acute stage. The patients had been followed up for 3 to 6 months. Eight of them recovered completely. Two cases had seizures. Two cases diagnosed with anti-NMDAR related epilepsy received sound effects after treated with cyclophosphamide. ConclusionsConvulsion may be the first common symptom of neuronal surface antibody syndromes in children. Immune factors should be screened when children with acute seizures and status epilepticus. Accompanying psychiatric symptoms, autoimmune epilepsy should be considered. The most common neuronal surface antibody in children with neuronal surface antibody syndromes is NMDAR antibody. EEG usually shows slow wave and sharp slow wave during seizures. Brain MRI is usually normal. Immunotherapy is effective in the majority of patients as the first line treatment. When the first-line treatment failed, second-line immunotherapy such as cyclophosphamide shock therapy on a regular basis is helpful.

禁忌用药对 Dravet 综合征认知结局的影响及初次非高热性痫性发作年龄对 SCN1A 相关痫性发作表型的临床预测作用

SCN1A 致病性变异可引起不同严重程度的疾病表型，而这在疾病初期可能难以辨别。研究组致力于探究有助于预测痫性发作分别向 Dravet 综合征演变和预测 Dravet 综合征认知结局的临床特征，分析了禁忌用药对认知减退的可能调节作用。评估由 164 例 SCN1A 相关痫性发作的荷兰患者组成的队列研究。临床数据通过医疗记录和半结构式电话回访获得。认知功能由一名儿童神经科医师、一名神经心理医师和一名临床基因学家测评分类。通过单因素和多因素回归分析多项临床变量（包括在病程前 5 年禁忌用药的持续时间）发现，起病前 5 年内更长时间的禁忌用药与纳入研究时更差的认知结局显著相关，同时与 Dravet 综合征患者第一个 5 年病程后更低的内插智商值和发育智商值有关。多因素线性回归分析提示，禁忌用药是认知结局的一个重要预测因素。此外，初次发现发育迟缓的年龄和初次非高热性痫性发作年龄也是其重要的预测因素。而在完整的队列中，初次非高热性痫性发作年龄是痫性发作向 Dravet 综合征演变最准确的预测因素。比研究数据提示病程前 5 年内更长时间的禁忌用药对 Dravet 综合征患者的认知结局有负面影响。早期诊断对于避免使用这些禁忌药物极为重要。研究还发现初次非高热性痫性发作年龄是痫性发作向 Dravet 综合征演变以及 Dravet 综合征疾病严重程度的重要预测因素，这些都可为 SCN1A 相关痫性发作年幼患者的父母提供建议。

Research progress on correlation between febrile seizure and trace elements in children

Febrile seizure is one of the most common emergencies in children, accounting for about 30% of all types of children, and the most common among children aged 6 months to 5 years. At the same time, children in this age group are at the peak of growth and development, and the content of various trace elements in the body is prone to abnormalities. At present, there are few related studies on febrile seizure and trace elements in children. This paper summarizes the related studies on febrile seizure and trace elements in order to provide theoretical guidance for the prevention and treatment of febrile seizure

小儿烧伤惊厥的原因分析及干预措施

目的　探讨小儿烧伤并发惊厥的原因及护理措施。 方法　回顾性分析2010年3月－2012年2月收治的35例患儿烧伤并发惊厥的临床病历资料。 结果　小儿烧伤惊厥的原因有休克、高热、电解质紊乱、烧伤毒血症、脑缺氧脑水肿，各种原因之间相互影响。本组35例患儿中，惊厥持续时间30 s～5 min不等，34例治愈，1例因多器官功能衰竭死亡，所有患儿随病情而好转。 结论　小儿烧伤后并发惊厥的原因较多，在治疗和护理过程中应随时把握病情变化，正确处理患儿高热、电解质紊乱等，一旦发生惊厥应采取及时有效的救护措施，防止意外发生。

基于红藻氨酸和劳拉西泮联合给药的新型人类获得性颞叶癫痫动物模型

红藻氨酸（Kainic acid，KA）是一种有效的谷氨酸类似物，用于诱导啮齿动物的神经退行性变和颞叶癫痫（TLE）。KA 可诱发严重的、持续的癫痫发作，即惊厥性癫痫持续状态（convulsive Status epilepticus，cSE），没有药物干预的情况下通常是致命的。在过去 30 年里，使用 KA 来建立人类癫痫动物模型毫无疑问被证明是有价值的，但显著的可变性和死亡率一直使结果变得不确定。这些问题很可能是 cSE 导致的，这是一种本质上可变且无法控制的全或无反应。然而，cSE 与人类疾病的相关性尚不确定，因为大多数癫痫患者从未经历过这种情况。该研究试图构建一种简单的、基于 KA 的 TLE 动物模型，以避免 cSE 及其混淆因素。成年雄性 Sprague-Dawley 大鼠分别接受皮下注射 KA（5 mg）和劳拉西泮（0.25 mg），剂量分别约为 15.0 mg/kg 和 0.75 mg/kg。持续的视频脑电图（VEEG）被用来监测急性癫痫的发作和检测自发性癫痫发作。免疫细胞化学、Fluoro-Jade B 染色和 Timm 染色被用来描述急性和慢性神经病理学改变。急性局灶海马癫痫发作在约 30 min 后开始并在几小时后自行终止。广泛的海马神经变性在 4 d 之后发现。在所有动物中自发性的局灶海马癫痫发作平均 12 d 之后开始。典型的海马硬化和苔藓纤维出芽的形成是长期神经病理学的特征。发病率和死亡率均为 0%。我们发现在联合注射低剂量苯二氮卓类药物时，KA 全身性给药的作用可局限于海马。这意味着劳拉西泮可以阻止痉挛性癫痫发作，而没有真正阻止癫痫电活动。这个创新的、无 cSE 的动物模型，可靠地模拟了获得性颞叶内侧癫痫所定义的特征：海马硬化和在长时间无癫痫发作后自发的海马起源的癫痫发作，并不伴显著的发病率、死亡率或无反应者。

The aetiology and prognosis of convulsive status epilepticus: a study of 331 cases in Tibet Lhasa area

Objectives Retrospective analysis of the Tibetan convulsive status epilepticus (CSE) for the aetiology, prognosis and its influencing factors in Tibet area. Methods Through electronic patient record, making “epilepsy”, “status epilepticus ”, “epileptic seizure” as keywords, convulsive status epilepticus patients in the People’s Hospital of Tibet Autonomous Region hospitalized from January 2015 to December 2020 were retrospectively observed, gathering their clinical data and aided examinations furthermore, and the prognoses were returned by telephone, meanwhile the functional status of those patients was assessed by the modified rankin scale. and the causes differ in gender, age, out-of-hospital antiepileptic treatment, family history of epilepsy and history of epilepsy were analyzed. The prognostic factors were analyzed by logistic regression. Results A total of 2 254 hospitalized patients with epilepsy were retrieved, including 331 CSE patients aged 14~84 years, 219 males and 112 females. There were 36 lost calls, 62 CSE deaths (21.01%), and 4 adverse outcomes (non-death)(1.7%).There were statistically significant differences in etiology of CSE in different ages and history of epilepsy (P<0.05), but there were no statistically significant differences in gender, out-of-hospital antiepileptic treatment, progression of refractory status epilepticus and family history of epilepsy. Cerebrovascular disease was the main cause of CSE in people aged 45 and over (54 cases), while the main cause of CSE in people aged under 45 was unknown (104 cases).Among the patients with previous history of epilepsy, the highest proportion was unknown cause [117 cases (48.8%)]; Among patients without a history of epilepsy, cerebrovascular disease [34 cases (37.4)] was the most common cause of CSE. Multivariate logistic regression analysis of prognostic factors of CSE showed that gender, age, GCS and electrolyte disorder had statistically significant effects on the death of CSE patients (P<0.05), while altitude and their duration and other factors had no statistically significant effects on the death of CSE patients (P>0.05). ConclusionsCerebrovascular disease is the leading cause of CSE in people aged 45 and over. Male, advanced age, low GCS score at discharge, and electrolyte disorder were risk factors.

Effect of Lidocaine-induced Seizure on Spatial Learning Memory in Rats

目的　研究利多卡因对海马的神经毒性是否会对大鼠空间学习记忆能力产生影响，并探讨大鼠空间学习能力的变化与海马CA3区锥体细胞数目的相关性。 方法　将成年Wistar雄性大鼠随机分为基础值组（n=7）和利多卡因惊厥组（n=40）。基础值组大鼠静脉给予生理盐水后使用Y迷宫测定大鼠的空间学习能力。利多卡因惊厥组大鼠尾静脉持续输注利多卡因造成惊厥，待大鼠恢复正常运动以后放入鼠笼重新饲养。并于惊厥后第1、3、5、7天从中随机抓取大鼠测试其空间学习能力以及组织学改变。根据对应天数将利多卡因惊厥组的40只大鼠随机细分为Day-1、Day-3、Day-5、Day-7亚组，每亚组10只。所有大鼠在测定空间学习能力之后立即处死，取出大脑并做石蜡包埋，冠状面切片后进行组织学检测，显微镜下评估海马CA3区锥体细胞状态。 结果　① 基础值组和Day-1、Day-3、Day-5、Day-7亚组大鼠的Y迷宫穿梭次数分别为（25.2 ± 3.7）、（27.1 ± 8.1）、（36.9 ± 9.9）、（38.7 ± 10.6）、（40.6 ± 16.3）次，除Day-1亚组与基础值组比较差异无统计学意义（P＞0.05）外，其余各亚组与基础值组差异均有统计学意义（P＜0.05）；② 与基础值组单位面积（10.3 ± 4.5）个（异常锥体）细胞比较，利多卡因惊厥组大鼠海马CA3区异常锥体细胞数增加，Day-1、Day-3、Day-5、Day-7亚组计数值分别为13.0 ± 7.2、15.6 ± 5.0、19.6 ± 8.1、18.1 ± 5.1，且与大鼠Y迷宫穿梭次数呈正相关（r=0.711，P＜0.05）。 结论　利多卡因引起的惊厥使成年大鼠海马依赖性空间学习能力下降，利多卡因的神经毒性引起的海马异常锥体细胞增多可能是造成这一现象的一种原因。

Clinical phenotype and molecular genetic analysis of 29 cases of epilepsy related to fever sensitivity

ObjectiveTo analyze the clinical characteristics and corresponding genetic features of epilepsy related to fever sensitivity. MethodsRetrospectively review 29 children with epilepsy related to fever sensitivity who were diagnosed and treated in the Department of Pediatric Neurology of the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2022, with complete clinical data and underwent molecular genetic testing. Fill in the clinical data registration form in detail, and retrospectively summarize their clinical characteristics, electroencephalogram (EEG) manifestations, neuroimaging examinations, the selection of antiepileptic drugs, curative effects, and evaluate and follow up the developmental indicators. ResultsAmong the 29 children with epilepsy related to fever sensitivity, there were 13 males (44.8%) and 16 females (55.2%); 10 cases (34.5%) were Dravet syndrome, 3 cases (10.3%) were genetic epilepsy with febrile seizures plus (GEFS+), and 1 case (3.4%) was PCDH19 gene-related epilepsy. The age of onset ranged from 2 to 25 months. Among them, 19 cases (65.5%) had an onset age of 2 to 12 months, and 10 cases (34.5%) had an onset age greater than 12 months. In 1 case of GEFS+ child, all seizures occurred after fever, and in the other 28 children, afebrile seizures were present. The interval between the first febrile seizure and the appearance of afebrile seizures was 0.09 to 116 months; the age of appearance of afebrile seizures was 5 to 134 months. There were 6 cases (20.7%) with a single seizure type, and 23 cases (79.3%) with 2 or more seizure types. There were 24 cases (82.8%) with generalized tonic-clonic seizures, 9 cases (31.0%) with generalized tonic seizures, 18 cases (62.1%) with focal seizures, 4 cases (13.8%) with absence seizures, and 1 case (3.4%) with spasm seizures. 10 cases (34.5%) of children had status epilepticus, and 13 cases (44.8%) had cluster seizures. 16 cases (55.2%) of children had a positive family history, among which 8 cases (27.6%) had a family history of febrile seizures, and 11 cases (37.9%) had a family history of afebrile seizures/epilepsy; during the initial visit and follow-up, 22 cases (75.9%) were found to have developmental delays of varying degrees. Pathogenic/suspected pathogenic gene variants/copy number variants clearly related to epilepsy were detected in 20 cases, with a detection rate of 68.9%, including SCN1A gene variants (11 cases), GABRB2 gene variants (1 case), GABRG2 gene variants (1 case), PCDH19 gene variants (1 case), SPTBN1 gene variants (c.1081_c.1097delAACTTGGAAGTGCTGCTinsCA, 1 case), ASNS gene variants (c.146G>A, 1 case), copy number variants in the 4p16.3 region (3 cases), and copy number variants in the 16p11.2 region (1 case). Among them, the gene variants of SPTBN1 and ASNS are novel gene variants that have not been previously reported in China for epilepsy related to fever sensitivity. ConclusionEpilepsy related to fever sensitivity mostly occurs in infancy, with diverse seizure patterns, varying degrees of severity of clinical symptoms, often accompanied by status epilepticus and cluster seizures, and mostly combined with developmental delays of varying degrees. This study found that the gene variants of SPTBN1 and ASNS, which have not been previously reported in China, may be rare pathogenic genes for epilepsy related to fever sensitivity.